Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.R165fs

NKX2-1

495 papers

RefSeq Summary

This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific ge...

Pfam Domains

Homeodomainaa 162–218UCSCHomeodomain
Homeodomainaa 162–218UCSCHomeodomain

Gene Aliases

HGNC Name

NK2 homeobox 1

HGNC Previous Symbols

NKX2A; BCH; TITF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003317.4
p.R165fs
c.493_494fs
Surrounding Variants
1 paper
NM_003317.4
p.R165delFs
c.493delG
1 paper
NM_003317.4
p.R165fs
c.493_494fs
12 papers
NM_001079668.3
p.R195W
c.583C>T
NM_003317.4
p.R165W
c.493C>T
5 papers
NM_001079668.3
p.L197P
c.590T>C
5 papers
NM_001079668.3
p.F198L
c.592T>C
1 paper
NM_001079668.3
p.K193T
c.578A>C
1 paper
NM_001079668.3
p.F198S
c.593T>C
4 papers
NM_001079668.3
p.F198L
c.594C>G
4 papers
NM_001079668.3
p.F198L
c.594C>A
1 paper
NM_001079668.3
p.S199W
c.596C>G
7 papers
NM_001079668.3
p.S199*
c.596C>A
NM_003317.4
p.S169*
c.506C>A
5 papers
NM_001079668.3
p.R191L
c.572G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."